Late onset epileptic spasms is frequent in MECP2 gene duplication: Electroclinical features and long-term follow-up of 8 epilepsy patients

International audienceMutation of the X-linked methyl CpG binding protein 2 (MECP2) has been first identified as the cause of Rett syndrome. More recently, MECP2 gene duplication syndrome has been identified in males. The MECP2 duplication syndrome is characterized by severe mental retardation, infantile hypotonia, progressive spasticity and recurrent infections. Epileptic seizures are inconstant but poorly described. The aim of the study is to describe the electroclinical features of epilepsy in MECP2 duplication patients in order to refine the epilepsy phenotype and its evolution.METHODS:We conducted a retrospective study in four child neurology departments in France. Eight boys with a MECP2 gene duplication and epilepsy were retrospectively studied. We evaluated both clinical and electroencephalographic data before seizure onset, at seizure onset and during the follow-up.RESULTS:The patients started seizures at the median age of 6 years (range: 2.5-17 years). Half exhibits late onset epileptic spasms while the other exhibit either focal epilepsy or unclassified generalized epilepsy. Before seizure onset, EEGs were abnormal in all patients showing a slowing of the background or a normal background with fast activities, while EEG performed in epileptic patients, showed a slowing of the background in 6/8 and localized slow or sharp waves in 7/8. Most patients (6/8) have evolved to drug resistant epilepsy.CONCLUSION:Although late onset epileptic spasms are common in patients with MECP2 duplication, no specific electroclinical phenotype emerges, probably due to genetic heterogeneity of the syndrome. Further studies are needed to individualize specific epileptic subtype in larger cohort of patients

Functional ultrasound imaging of brain activity in human newborns

Functional neuroimaging modalities are crucial for understanding brain function, but their clinical use is challenging. Recently, the use of ultrasonic plane waves transmitted at ultrafast frame rates was shown to allow for the spatiotemporal identification of brain activation through neurovascular coupling in rodents. Using a customized flexible and noninvasive headmount, we demonstrate in human neonates that real-time functional ultrasound imaging (fUSI) is feasible by combining simultaneous continuous video-electroencephalography (EEG) recording and ultrafast Doppler (UfD) imaging of the brain microvasculature. fUSI detected very small cerebral blood volume variations in the brains of neonates that closely correlated with two different sleep states defined by EEG recordings. fUSI was also used to assess brain activity in two neonates with congenital abnormal cortical development enabling elucidation of the dynamics of neonatal seizures with high spatiotemporal resolution (200 μm for UfD and 1 ms for EEG). fUSI was then applied to track how waves of vascular changes were propagated during interictal periods and to determine the ictal foci of the seizures. Imaging the human brain with fUSI enables high-resolution identification of brain activation through neurovascular coupling and may provide new insights into seizure analysis and the monitoring of brain function

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome

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Évaluation des risques pour la santé humaine et l’environnement et recommandations pour leurmaîtrise, dans le cadre de l’administration des médicaments vétérinaires antiparasitaires externes sous forme de bains, douches et pulvérisations en élevages de ruminants

Citation suggérée : Anses. (2022). Evaluation des risques pour la santé humaine et l’environnement et recommandations pour leur maîtrise, dans le cadre de l’administration des médicaments vétérinaires antiparasitaires externes sous forme de bains, douches et pulvérisations en élevages ruminants. (Saisine n° 2018-SA-0269). Maisons-Alfort : Anses, 282 p.L’émergence ou la réémergence de maladies vectorielles dont les agents pathogènes sonttransmis par des insectes ou des tiques, l’augmentation de la prévalence de la galepsoroptique chez les ruminants, conduisent les vétérinaires à prescrire entre autres destraitements antiparasitaires externes (APE) sous forme de bains, douches, pulvérisations(BDP). Ces antiparasitaires sont des organophosphorés (OP), des pyréthrinoïdes ou encoreun inhibiteur de la croissance larvaire.Ces traitements occasionnent une exposition des travailleurs aux émulsions antiparasitairesavec des risques potentiels pour l’utilisateur (pulvérisations et inhalation, bains/douches etéclaboussures…) et pour l’environnement (ruissellements des émulsions lors de pulvérisation,douche, épandage des reliquats de baignoire…). De plus, des défauts d’efficacité observésvis-à-vis de certaines myiases (Wohlfahrtia magnifica) conduisent à des pratiques éloignéesdes recommandations de prescription (surconcentrations, mélanges de différentes molécules,applications locales…).Les recommandations peuprécises des résumés des caractéristiques du produit (RCP)induisent un questionnement de la part des utilisateurs en termes de prévention de la santédes professionnels, d’impact environnemental notamment lié à l’élimination des effluents desélevages. Il en découle une nécessité de préciser davantage les pratiques d’utilisation de cesmédicaments vétérinaires

High Risk of Anal and Rectal Cancer in Patients With Anal and/or Perianal Crohn’s Disease

International audienceBackground & AimsLittle is known about the magnitude of the risk of anal and rectal cancer in patients with anal and/or perineal Crohn’s disease. We aimed to assess the risk of anal and rectal cancer in patients with Crohn’s perianal disease followed up in the Cancers Et Surrisque Associé aux Maladies Inflammatoires Intestinales En France (CESAME) cohort.MethodsWe collected data from 19,486 patients with inflammatory bowel disease (IBD) enrolled in the observational CESAME study in France, from May 2004 through June 2005; 14.9% of participants had past or current anal and/or perianal Crohn’s disease. Subjects were followed up for a median time of 35 months (interquartile range, 29–40 mo). To identify risk factors for anal cancer in the total CESAME population, we performed a case-control study in which participants were matched for age and sex.ResultsAmong the total IBD population, 8 patients developed anal cancer and 14 patients developed rectal cancer. In the subgroup of 2911 patients with past or current anal and/or perianal Crohn’s lesions at cohort entry, 2 developed anal squamous-cell carcinoma, 3 developed perianal fistula–related adenocarcinoma, and 6 developed rectal cancer. The corresponding incidence rates were 0.26 per 1000 patient-years for anal squamous-cell carcinoma, 0.38 per 1000 patient-years for perianal fistula–related adenocarcinoma, and 0.77 per 1000 patient-years for rectal cancer. Among the 16,575 patients with ulcerative colitis or Crohn’s disease without anal or perianal lesions, the incidence rate of anal cancer was 0.08 per 1000 patient-years and of rectal cancer was 0.21 per 1000 patient-years. Among factors tested by univariate conditional regression (IBD subtype, disease duration, exposure to immune-suppressive therapy, presence of past or current anal and/or perianal lesions), the presence of past or current anal and/or perianal lesions at cohort entry was the only factor significantly associated with development of anal cancer (odds ratio, 11.2; 95% CI, 1.18-551.51; P = .03).ConclusionsIn an analysis of data from the CESAME cohort in France, patients with anal and/or perianal Crohn’s disease have a high risk of anal cancer, including perianal fistula–related cancer, and a high risk of rectal cancer